Recessive dystrophic epidermolysis bullosa: advances and impact of the development of gene and allogeneic therapies

Epidermólisis bullosa distrófica recesiva: avances e impacto del desarrollo de terapias génicas y alogénicas

Authors

  • Yelson Alejandro Picón-Jaimes Universidad Internacional de Valencia. Valencia, España
  • Issa Lorena López-Medina Universidad El Bosque. Bogotá, Colombia
  • Jeilys Karina Carmona-Gómez Universidad del Sinú. Cartagena, Colombia
  • Yessica Patricia Filorio-Campos Universidad Autónoma del Estado de México. Toluca, México

DOI:

https://doi.org/10.22258/hgh.2022.62.120

Abstract

Recessive dystrophic epidermolysis bullosa is a severe, heterogeneous genetic disorder caused by mutations affecting the expression of dermal proteins, leading to mechanobullous manifestations. In Latin America, it may be considered a relevant research line that can be promoted and developed through clinical and translational research in dermatology.

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Author Biographies

Yelson Alejandro Picón-Jaimes, Universidad Internacional de Valencia. Valencia, España

MD, Esp, MSc, PhD(c). Universidad Internacional de Valencia. Valencia, España. Centro de Investigaciones Médico-Quirúrgicas, Capitulo Futuros Cirujanos, Asociación Colombiana de Cirugía. Santiago, Chile. 

Issa Lorena López-Medina, Universidad El Bosque. Bogotá, Colombia

MD. Departamento de Medicina, Universidad El Bosque. Bogotá, Colombia. 

Jeilys Karina Carmona-Gómez, Universidad del Sinú. Cartagena, Colombia

MD. Facultad de Medicina, Universidad del Sinú. Cartagena, Colombia. 

Yessica Patricia Filorio-Campos, Universidad Autónoma del Estado de México. Toluca, México

MD. Facultad de Medicina, Universidad Autónoma del Estado de México. Toluca, México.   

References

Soro L, Bartus C, Purcell S. Recessive dystrophic epidermolysis bullosa: a review of disease pathogenesis and update on future therapies. J Clin Aesthet Dermatol. 2015; 8(5):41-6.

Natale MI, Manzur GB, Lusso SB, Cella E, Giovo ME, Andrada R, et al. Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation. Am J Med Genet A. 2022. Online ahead of print. Disponible en: doi: 10.1002/ajmg.a.62957

Mosallaei D, Hao M, Antaya RJ, et al. Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants. JAMA Dermatol 2022; 158:366. Disponible en: doi: 10.1001/jamadermatol.2021.5992

Gurevich I, Agarwal P, Zhang P, et al. In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial. Nat Med 2022; 28:780. Disponible en: doi: 10.1038/s41591-022-01737-y

Kiritsi D, Dieter K, Niebergall-Roth E, et al. Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa. JCI Insight 2021; 6. Disponible en: doi: 10.1172/jci.insight.151922

Lozada-Martinez ID, Suarez-Causado A, Solana-Tinoco JB. Ethnicity, genetic variants, risk factors and cholelithiasis: The need for eco-epidemiological studies and genomic analysis in Latin American surgery. Int J Surg. 2022; 99:106589. Disponible en: doi: 10.1016/j.ijsu.2022.106589

Vol. 6 Núm. 2 (2022)

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Published

2022-12-26

How to Cite

Picón-Jaimes, Y. A., López-Medina, I. L., Carmona-Gómez, J. K., & Filorio-Campos, Y. P. (2022). Recessive dystrophic epidermolysis bullosa: advances and impact of the development of gene and allogeneic therapies: Epidermólisis bullosa distrófica recesiva: avances e impacto del desarrollo de terapias génicas y alogénicas. Peruvian Journal of Health Care and Global Health, 6(2), 93–94. https://doi.org/10.22258/hgh.2022.62.120

Issue

Vol. 6 No. 2 (2022)

Section

Letters to the editor

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Copyright (c) 2022 Yelson Alejandro Picón-Jaimes, Issa Lorena López-Medina, Jeilys Karina Carmona-Gómez, Yessica Patricia Filorio-Campos

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